What is the official name of the TPM1 gene?
The official name of this gene is “tropomyosin 1 (alpha).”
TPM1 is the gene's official symbol. The TPM1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the TPM1 gene?
- From NCBI Gene:
This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
- From UniProt (TPM1_HUMAN):
Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.
How are changes in the TPM1 gene related to health conditions?
- Genetics Home Reference provides information about these conditions associated with changes in the TPM1 gene:
- UniProt (TPM1_HUMAN) provides the following information about the TPM1 gene's known or predicted involvement in human disease.
Cardiomyopathy, familial hypertrophic 3 (CMH3): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by mutations affecting the gene represented in this entry.
Cardiomyopathy, dilated 1Y (CMD1Y): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.
Left ventricular non-compaction 9 (LVNC9): A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TPM1 gene.
- Dilated cardiomyopathy 1Y
- Familial hypertrophic cardiomyopathy 3
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the TPM1 gene and its association with health conditions.
Where is the TPM1 gene located?
Cytogenetic Location: 15q22.1
Molecular Location on chromosome 15: base pairs 63,042,639 to 63,071,915
The TPM1 gene is located on the long (q) arm of chromosome 15 at position 22.1.
More precisely, the TPM1 gene is located from base pair 63,042,639 to base pair 63,071,915 on chromosome 15.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TPM1?
You and your healthcare professional may find the following resources about TPM1 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the TPM1 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding TPM1?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.